Varaico: Literature-Extracted Genetic Variants

SELE

392 papers

RefSeq Summary

The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the a...

Pfam Domains

Lectin_Caa 29–140UCSCLectin C-type domain

EGFaa 143–173UCSCEGF-like domain

Sushiaa 180–237UCSCSushi repeat (SCR repeat)

Sushiaa 242–299UCSCSushi repeat (SCR repeat)

Sushiaa 304–362UCSCSushi repeat (SCR repeat)

Sushiaa 367–425UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

selectin E

HGNC Previous Symbols

ELAM1; ELAM

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000450.2

p.S4A

c.10T>G

Surrounding Variants

1 paper

NM_000450.2

p.S4S

c.12A>G

1 paper

NM_000450.2

p.M1_I2insFs

c.3_4insT

1 paper

NM_000450.2

p.M1V

c.1A>G

1 paper

NM_000450.2

p.S8*

c.23C>A

2 papers

NM_000450.2

p.S8S

c.24A>C

5 papers

NM_000450.2

p.L10P

c.29T>C

1 paper

NM_000450.2

p.L12M

c.34T>A

1 paper

NM_000450.2

p.V13Splc

c.37+12C>T

1 paper

NM_000450.2

p.L14L

c.42T>A

1 paper

NM_000450.2

p.L15H

c.44T>A

1 paper

NM_000450.2

p.K17E

c.49A>G

2 papers

NM_000450.2

p.E18K

c.52G>A